Variant report

Variant	rs11231897
Chromosome Location	chr11:64643869-64643870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64643522-64644452	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:64642911-64644203	U87	brain:	n/a	n/a
3	MXI1	chr11:64643147-64644123	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:64643275-64643950	HL-60	blood:	n/a	n/a
5	POLR2A	chr11:64643756-64643929	ProgFib	skin:	n/a	n/a
6	POLR2A	chr11:64643014-64646953	GM12878	blood:	n/a	n/a
7	MTA3	chr11:64642909-64647630	GM12878	blood:	n/a	n/a
8	MXI1	chr11:64642996-64647031	IMR90	lung:	n/a	n/a
9	MAZ	chr11:64643035-64647566	IMR90	lung:	n/a	n/a
10	CHD1	chr11:64641789-64647512	IMR90	lung:	n/a	n/a
11	POLR2A	chr11:64643444-64644189	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:64643680-64644130	U87	brain:	n/a	n/a
13	RUNX3	chr11:64643403-64644042	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:64642961-64647533	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64642979-64647281	GM12891	blood:	n/a	n/a
16	CEBPB	chr11:64643285-64643968	GM12878	blood:	n/a	chr11:64643589-64643602 chr11:64643589-64643602 chr11:64643590-64643601
17	POLR2A	chr11:64641707-64647472	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:64641868-64647453	IMR90	lung:	n/a	n/a
19	NFATC1	chr11:64643722-64644511	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:64643398-64644053	HL-60	blood:	n/a	n/a
21	POLR2A	chr11:64642765-64647387	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:64643736-64644163	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:64641759-64647332	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:64642883-64644203	U87	brain:	n/a	n/a
25	POLR2A	chr11:64643680-64643951	U87	brain:	n/a	n/a
26	POLR2A	chr11:64643068-64647475	HUVEC	blood vessel:	n/a	n/a
27	ATF2	chr11:64643267-64643876	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:64643709-64645502	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:64641603-64647651	GM12878	blood:	n/a	n/a
30	TCF12	chr11:64643781-64647305	A549	lung:	n/a	n/a
31	POLR2A	chr11:64642934-64647168	GM12891	blood:	n/a	n/a
32	PML	chr11:64642910-64645446	GM12878	blood:	n/a	n/a
33	CHD1	chr11:64643727-64643899	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:64643074-64647092	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:64641626-64647649	GM12892	blood:	n/a	n/a
36	ZNF263	chr11:64643851-64646866	HEK293-T-REx	kidney:	n/a	chr11:64645023-64645032 chr11:64645020-64645029
37	POLR2A	chr11:64643026-64647484	GM18505	blood:	n/a	n/a
38	TCF7L2	chr11:64643815-64644285	PANC-1	pancreas:	n/a	n/a
39	STAT3	chr11:64643673-64644553	MCF10A-Er-Src	breast:	n/a	chr11:64644508-64644516

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64643787..64646984-chr11:64875593..64882466,11	MCF-7	breast:
2	chr11:64642626..64644470-chr11:64900095..64903022,2	K562	blood:
3	chr11:64643589..64645871-chr11:64883152..64885290,3	K562	blood:
4	chr11:64642728..64645310-chr11:64936212..64940521,3	K562	blood:
5	chr11:64643788..64647961-chr11:64848883..64851896,4	K562	blood:
6	chr11:64598378..64602131-chr11:64643786..64647178,3	K562	blood:
7	chr11:64641742..64644629-chr11:64755120..64758066,2	MCF-7	breast:
8	chr11:64544833..64546350-chr11:64643462..64646283,2	K562	blood:
9	chr11:64643590..64647956-chr11:64883297..64887661,6	MCF-7	breast:
10	chr11:64643435..64646351-chr11:64890486..64893627,3	K562	blood:
11	chr11:64642261..64647543-chr11:64882719..64886329,5	MCF-7	breast:
12	chr11:64642970..64646207-chr11:64900095..64903878,3	K562	blood:
13	chr11:64641917..64644462-chr11:64890461..64892228,2	K562	blood:
14	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:

No data

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000213465	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000162298	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10897531	1.00[AMR][1000 genomes]
rs11231888	1.00[AMR][1000 genomes]
rs11231892	1.00[AMR][1000 genomes]
rs35197993	1.00[AMR][1000 genomes]
rs61746812	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases
10	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:64631600-64644400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64632200-64644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:64635400-64644000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:64638600-64644000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64639600-64644000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:64641800-64644000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:64641800-64645000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
9	chr11:64641800-64645000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:64641800-64645400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:64641800-64645400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:64641800-64646000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:64641800-64646000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
14	chr11:64642000-64644400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
15	chr11:64642000-64644400	Transcr. at gene 5' and 3'	NHLF	lung
16	chr11:64642000-64644600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
17	chr11:64642000-64644800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:64642000-64645400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:64642000-64646000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr11:64642200-64644000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:64642200-64644000	Enhancers	Stomach Mucosa	stomach
22	chr11:64642200-64644200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:64642200-64644600	Transcr. at gene 5' and 3'	HSMM	muscle
24	chr11:64642200-64644800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:64642200-64645800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:64642400-64644200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:64642400-64644200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:64642400-64644600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:64642400-64645400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:64642400-64645600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:64642400-64646000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:64642600-64644000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:64642600-64644200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr11:64642600-64644600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:64642600-64645200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:64642600-64646400	Active TSS	HSMMtube	muscle
37	chr11:64642600-64646800	Active TSS	GM12878-XiMat	blood
38	chr11:64642800-64645400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:64642800-64645600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:64643000-64644200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:64643000-64644200	Transcr. at gene 5' and 3'	NHEK	skin
42	chr11:64643000-64644600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:64643000-64644600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:64643000-64644600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:64643000-64644600	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr11:64643000-64644600	Flanking Active TSS	HepG2	liver
47	chr11:64643000-64644800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:64643000-64645000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:64643000-64645000	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:64643000-64645000	Flanking Active TSS	HUVEC	blood vessel

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